• English



  • Massachusetts General Hospital, , Boston , MA

Medical School

  • Harvard Medical School , Boston , MA


  • Massachusetts General Hospital , Boston , MA


  • Boston Children's Hospital , Boston , MA


  • American Board of Pediatrics, General Pediatrics


Publications powered by Harvard Catalyst Profiles

  1. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. Am J Hematol. 2019 05; 94(5):522-527. View abstract
  2. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011 Aug 31; 478(7367):97-102. View abstract
  3. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View abstract
  4. Abnormal modulation of cell protective systems in response to ischemic/reperfusion injury is important in the development of mouse sickle cell hepatopathy. Haematologica. 2011 Jan; 96(1):24-32. View abstract
  5. Pulmonary hypertension and nitric oxide depletion in sickle cell disease. Blood. 2010 Aug 05; 116(5):687-92. View abstract
  6. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics. 2009 Aug 07; 38(3):281-90. View abstract
  7. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92. View abstract
  8. Hydroxyurea for the treatment of sickle cell anemia. N Engl J Med. 2008 Mar 27; 358(13):1362-9. View abstract
  9. Protective effects of phosphodiesterase-4 (PDE-4) inhibition in the early phase of pulmonary arterial hypertension in transgenic sickle cell mice. FASEB J. 2008 Jun; 22(6):1849-60. View abstract
  10. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
  11. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View abstract
  12. Quantitative trait loci for peripheral blood cell counts: a study in baboons. Mamm Genome. 2007 May; 18(5):361-72. View abstract
  13. Quantitative trait loci for baseline erythroid traits. Mamm Genome. 2006 Apr; 17(4):298-309. View abstract
  14. Prevention and management of stroke in sickle cell anemia. Hematology Am Soc Hematol Educ Program. 2006; 54-7. View abstract
  15. Preventing stroke in sickle cell anemia. N Engl J Med. 2005 Dec 29; 353(26):2743-5. View abstract
  16. Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume. Mamm Genome. 2005 Oct; 16(10):749-63. View abstract
  17. Genetic influences on peripheral blood cell counts: a study in baboons. Blood. 2005 Aug 15; 106(4):1210-4. View abstract
  18. Acquisition of mutans streptococci and caries prevalence in pediatric sickle cell anemia patients receiving long-term antibiotic therapy. Pediatr Dent. 2005 May-Jun; 27(3):186-90. View abstract
  19. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8. View abstract
  20. Human erythrocyte membrane band 3 protein influences hemoglobin cooperativity. Possible effect on oxygen transport. J Biol Chem. 2003 Oct 10; 278(41):39565-71. View abstract
  21. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88. View abstract
  22. Sickle cell anemia as an inflammatory disease. J Clin Invest. 2000 Aug; 106(3):337-8. View abstract
  23. The acute chest syndrome of sickle cell disease. N Engl J Med. 2000 Jun 22; 342(25):1904-7. View abstract
  24. Transposing sequences between fetal and adult hemoglobins indicates which subunits and regulatory molecule interfaces are functionally related. Biochemistry. 2000 Apr 04; 39(13):3774-81. View abstract
  25. Safety of hydroxyurea in children with sickle cell anemia: results of the HUG-KIDS study, a phase I/II trial. Pediatric Hydroxyurea Group. Blood. 1999 Sep 01; 94(5):1550-4. View abstract
  26. Reticulocyte hemoglobin content to diagnose iron deficiency in children. JAMA. 1999 Jun 16; 281(23):2225-30. View abstract
  27. Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. The Cooperative Study of Sickle Cell Disease. Pediatrics. 1999 Mar; 103(3):640-5. View abstract
  28. Oral magnesium supplements reduce erythrocyte dehydration in patients with sickle cell disease. J Clin Invest. 1997 Oct 01; 100(7):1847-52. View abstract
  29. Reticulocyte hemoglobin: an integrated parameter for evaluation of erythropoietic activity. Am J Clin Pathol. 1997 Aug; 108(2):133-42. View abstract
  30. The febrile child with sickle cell disease: a pediatrician's quandary. J Pediatr. 1997 May; 130(5):693-4. View abstract
  31. Bone marrow transplantation in sickle cell anemia--the dilemma of choice. N Engl J Med. 1996 Aug 08; 335(6):426-8. View abstract
  32. Therapy with oral clotrimazole induces inhibition of the Gardos channel and reduction of erythrocyte dehydration in patients with sickle cell disease. J Clin Invest. 1996 Mar 01; 97(5):1227-34. View abstract
  33. A high-performance liquid chromatographic assay for the determination of itraconazole concentration using solid-phase extraction and small sample volume. Ther Drug Monit. 1995 Oct; 17(5):522-5. View abstract
  34. Membrane protein interactions in sickle red blood cells: evidence of abnormal protein 3 function. Blood. 1995 Sep 01; 86(5):1992-8. View abstract
  35. A new therapeutic approach for sickle cell disease. Blockade of the red cell Ca(2+)-activated K+ channel by clotrimazole. Ann N Y Acad Sci. 1995 Jul 12; 763:262-71. View abstract
  36. Oral administration of clotrimazole and blockade of human erythrocyte Ca(++)-activated K+ channel: the imidazole ring is not required for inhibitory activity. J Pharmacol Exp Ther. 1995 Apr; 273(1):266-72. View abstract
  37. Sickle cell paths converge on hydroxyurea. Nat Med. 1995 Apr; 1(4):307-8. View abstract
  38. HPLC measurement, blood distribution, and pharmacokinetics of oral clotrimazole, potentially useful antisickling agent. Clin Chem. 1995 Mar; 41(3):387-91. View abstract
  39. Sickle reticulocytes adhere to VCAM-1. Blood. 1995 Jan 01; 85(1):268-74. View abstract
  40. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med. 1994 Jun 09; 330(23):1639-44. View abstract
  41. Reticulocyte hemoglobin content (CHr): early indicator of iron deficiency and response to therapy. Blood. 1994 May 15; 83(10):3100-1. View abstract
  42. Easing the suffering caused by sickle cell disease. N Engl J Med. 1994 Mar 17; 330(11):783-4. View abstract
  43. Predicting medical student success in a clinical clerkship by rating students' nonverbal behavior. Arch Pediatr Adolesc Med. 1994 Feb; 148(2):213-9. View abstract
  44. A highly conserved region of human erythrocyte ankyrin contains the capacity to bind spectrin. J Biol Chem. 1993 Nov 15; 268(32):24421-6. View abstract
  45. Effect of context on the rating of students by faculty and housestaff in a clinical clerkship. Acad Med. 1992 Jul; 67(7):485. View abstract
  46. Hydroxyurea: effects on hemoglobin F production in patients with sickle cell anemia. Blood. 1992 May 15; 79(10):2555-65. View abstract
  47. Pain in sickle cell disease. Rates and risk factors. N Engl J Med. 1991 Jul 04; 325(1):11-6. View abstract
  48. Toad urinary bladder epithelial cells contain an analogue of cytoskeletal protein 4.1. Am J Physiol. 1991 Jun; 260(6 Pt 1):C1308-14. View abstract
  49. Reliability of Tanner stage assessments in a multi-center study. Am J Hum Biol. 1990; 2(5):503-510. View abstract
  50. Pathology of membrane proteins in sickle erythrocytes. Ann N Y Acad Sci. 1989; 565:83-5. View abstract
  51. Is there treatment for sickle cell anemia? N Engl J Med. 1988 Dec 01; 319(22):1479-80. View abstract
  52. Membrane protein lesions in erythrocytes with Heinz bodies. J Clin Invest. 1988 Sep; 82(3):1051-8. View abstract
  53. Influence of hydroxyurea on fetal hemoglobin production in vitro. Blood. 1987 Dec; 70(6):1824-9. View abstract
  54. Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes. J Clin Invest. 1986 Dec; 78(6):1487-96. View abstract
  55. Pyruvate kinase deficiency in dog and human erythrocytes: effects of energy depletion on cation composition and cellular hydration. Am J Hematol. 1986 Nov; 23(3):217-21. View abstract
  56. Variant chronic granulomatous disease: modulation of the neutrophil defect by severe infection. Blood. 1986 Oct; 68(4):914-9. View abstract
  57. Chemotherapy to increase fetal hemoglobin in patients with sickle cell anemia. Am J Pediatr Hematol Oncol. 1985; 7(3):258-60. View abstract
  58. Loss of adhesion of erythrocyte precursors to fibronectin during erythroid differentiation. Prog Clin Biol Res. 1985; 184:355-68. View abstract
  59. Mammalian reticulocytes lose adhesion to fibronectin during maturation to erythrocytes. Proc Natl Acad Sci U S A. 1985 Jan; 82(2):440-4. View abstract
  60. Molecular defect in the sickle erythrocyte skeleton. Abnormal spectrin binding to sickle inside-our vesicles. J Clin Invest. 1985 Jan; 75(1):266-71. View abstract
  61. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest. 1984 Aug; 74(2):652-6. View abstract
  62. Influence of sickle hemoglobinopathies on growth and development. N Engl J Med. 1984 Jul 05; 311(1):7-12. View abstract
  63. Hydroxyurea increases fetal hemoglobin production in sickle cell anemia. Trans Assoc Am Physicians. 1984; 97:268-74. View abstract
  64. Exercise-induced hemolysis in sickle cell anemia: shear sensitivity and erythrocyte dehydration. Blood. 1982 May; 59(5):1055-60. View abstract
  65. Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. J Clin Invest. 1981 Sep; 68(3):631-8. View abstract
  66. Glycosylation of variant hemoglobins in normal and diabetic subjects. Diabetes Care. 1980 Sep-Oct; 3(5):590-3. View abstract
  67. Isobutyl nitrite toxicity by ingestion. Ann Intern Med. 1980 May; 92(5):637-8. View abstract
  68. Lung function in children with sickle cell anemia. Am Rev Respir Dis. 1979 Jul; 120(1):210-4. View abstract
  69. Newborn bleeding disorders: a practical approach. Pediatr Ann. 1979 Jun; 8(6):55-67. View abstract
  70. Energy reserve and cation composition of irreversibly sickled cells in vivo. Br J Haematol. 1978 Dec; 40(4):527-32. View abstract
  71. Red blood cell size and glycolytic enzyme activity: relationship to number of intramedullary cell divisions. Pediatr Res. 1978 Apr; 12(4 Pt 1):308-9. View abstract
  72. Haemolytic disorders of infancy. Clin Haematol. 1978 Feb; 7(1):35-61. View abstract